杜氏肌营养不良症发病率的决定因素。
Determinants of the incidence of Duchenne muscular dystrophy.
机构信息
School of Mathematics and Statistics, F07, University of Sydney, Sydney, NSW 2006, Australia.
出版信息
Ann Transl Med. 2015 Nov;3(19):287. doi: 10.3978/j.issn.2305-5839.2015.10.45.
Abstract
Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common muscular dystrophy with an incidence in boys of about 200 per million births. It presents in early childhood leading to death in early teens. Its relatively high incidence and severity have stimulated many studies from epidemiological to curative. Recent advances in molecular biology have opened up the possibility of carrier identification and potential reduction of the incidence of cases. This paper gives a population genetics model which can be used to predict the reduction in incidence.
摘要
杜氏肌营养不良症（DMD）是一种 X 连锁疾病，是最常见的肌肉疾病，在男孩中的发病率约为每百万出生人数的 200 人。它在儿童早期出现，导致青少年早期死亡。其较高的发病率和严重程度促使人们从流行病学角度进行了许多研究，以期找到治疗方法。分子生物学的最新进展为携带者鉴定和潜在的病例发生率降低开辟了可能性。本文提出了一个群体遗传学模型，可用于预测发病率的降低。
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本文引用的文献
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Duchenne muscular dystrophy.杜兴氏肌肉营养不良症
J Paediatr Child Health. 2015 Aug;51(8):759-64. doi: 10.1111/jpc.12868. Epub 2015 Mar 9.
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Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).新生儿足跟血筛查杜氏肌营养不良症：威尔士（英国） 21 年经验。
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Missed opportunities for duchenne muscular dystrophy.杜氏肌营养不良症的错失机遇
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Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.从杜兴氏肌营养不良症家族中X染色体DNA单倍型的分离情况估计突变率的男女比例。
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